Laryngo-onycho-cutaneous syndrome

Dermatol Clin. 2010 Jan;28(1):89-92. doi: 10.1016/j.det.2009.10.010.

Abstract

Laryngo-onycho-cutaneous (LOC) syndrome was reclassified as a subtype of junctional epidermolysis bullosa (JEB) based on clinical features similar to JEB and its association, in the majority of patients from the Punjab, with a unique mutation affecting the N terminus of the alpha3 chain of LM332. Although LOC syndrome is now a subtype of JEB(JEB-LOC) JEB-LOC has a distinct clinicopathologic appearance and molecular fingerprint. The intricacies of the JEB-LOC subtype are discussed in this article with regard to disease presentation, pathogenesis, management, and prognosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cell Adhesion Molecules / genetics
  • Conjunctival Diseases / diagnosis*
  • Conjunctival Diseases / etiology*
  • Conjunctival Diseases / genetics
  • Epidermolysis Bullosa, Junctional / complications*
  • Epidermolysis Bullosa, Junctional / diagnosis*
  • Epidermolysis Bullosa, Junctional / genetics
  • Humans
  • Indien
  • Kalinin
  • Laryngeal Diseases / diagnosis*
  • Laryngeal Diseases / etiology*
  • Laryngeal Diseases / genetics

Substances

  • Cell Adhesion Molecules